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Assessing Genetic Risks: Implications for Health and Social Policy
and innovative alternative methods of conveying such information, for example, in pamphlets written in easily understood language.
Research is needed to determine how well primary care practitioners are prepared for genetic counseling tasks and what education and training will be required to prepare them for expanded genetic testing and counseling (see Chapter 6). Counseling about identified carrier status may require referral for specialized genetic counseling, for example, in complex or untreatable disorders. In addition, when the sensitivity or specificity of the carrier test is less than optimal and there are social concerns about confidentiality and discrimination; under these circumstances, specialized genetic counseling may also be needed before any genetic test to help clients make a decision about whether to pursue carrier testing.
The committee believes that patients should disclose to relatives genetic information relevant to the health of those relatives. However, the committee recommends that confidentiality be breached only in rare circumstances to prevent serious avoidable harm under conditions described inChapter 8. If there is a possibility that confidentiality may be breached, those circumstances should be fully disclosed in the informed consent process before carrier screening or any other type of genetic service. Under those rare circumstances where unauthorized disclosure of genetic information is deemed warranted, the genetic counselor should first try to obtain the permission of the person to release the information. To facilitate the disclosure of relevant genetic information to family members, accurate and balanced materials should be developed to assist individuals in informing their families and in providing access to further information, as well as access to testing if relatives should choose to be tested.
The committee is concerned that not enough genetic pretest education and counseling is now given surrounding prenatal diagnosis, and the committee recommends education and counseling both before and after prenatal diagnosis. In most cases, this education and counseling should be provided by a trained genetics professional or a primary care practitioner with special training in genetics. Special training in genetics is needed by anyone offering prenatal or other reproductive genetic testing (see Chapter 6). Prenatal diagnosis may also be offered for high-risk pregnancies, where there was a previously affected child or family member, both parents are carriers of an autosomal recessive disorder, or one parent carries a dominant trait.
Pretest genetic education and counseling should help people determine whether they wish to undertake prenatal testing. All of the options available when an abnormality is detected should then be discussed with the client before the test is given. The education and counseling process before prenatal diagnosis entails assessment of family, medical, and pregnancy history; informa-